HER2 Ile655Val and PTEN IVS4 polymorphisms in patients with breast cancer

Molecular Biology Reports

Volumn 40, Issue 2, 2013, Pages 1813-1818

  Ozturk, Oguz ^a   Canbay, Emel ^b,c,d   Kahraman, Ozlem T ^a   Fatih Seyhan, M ^a   Aydogan, Fatih ^e   Celik, Varol ^e   Uras, Cihan ^e  

^a ISTANBUL UNIVERSITY   (Turkey)

^b Derince Education and Research Hospital   (Turkey)

^c NPO Organization to Support Peritoneal Dissemination Treatment   (Japan)

^d Kishiwada Tokushukai Hospital   (Japan)

^e ISTANBUL UNIVERSITY   (Turkey)

Author keywords

Breast cancer; HER2 polymorphism; PTEN IVS4 polymorphism; Turkish population

Indexed keywords

EPIDERMAL GROWTH FACTOR RECEPTOR 2; PHOSPHATIDYLINOSITOL 3,4,5 TRISPHOSPHATE 3 PHOSPHATASE;

ADULT; AGE; ARTICLE; BREAST CANCER; CANCER PROGNOSIS; CANCER RISK; CLINICAL FEATURE; CONTROLLED STUDY; DNA POLYMORPHISM; EXON; GENE FREQUENCY; GENE INSERTION; GENETIC MARKER; GENETIC RISK; GENOTYPE; HER2 GENE; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; INTRON; MAJOR CLINICAL STUDY; POLYMERASE CHAIN REACTION; PREDICTION; PTEN GENE; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; RISK ASSESSMENT; TURKEY (REPUBLIC);

ADULT; AMINO ACID SUBSTITUTION; BREAST NEOPLASMS; CASE-CONTROL STUDIES; FEMALE; GENE FREQUENCY; GENETIC ASSOCIATION STUDIES; GENETIC PREDISPOSITION TO DISEASE; HUMANS; INTRONS; MIDDLE AGED; MUTAGENESIS, INSERTIONAL; ODDS RATIO; POLYMORPHISM, SINGLE NUCLEOTIDE; PTEN PHOSPHOHYDROLASE; RECEPTOR, ERBB-2; SEQUENCE ANALYSIS, DNA;

EID: 84878369512     PISSN: 03014851     EISSN: 15734978     Source Type: Journal    
DOI: 10.1007/s11033-012-2235-2     Document Type: Article

References (41)

1. Sorlie T, Perou CM, Tibshirani R, Aas T, Geisler S, Johnsen H, Hastie T, Eisen MB, van de Rijn M, Jeffrey SS, Thorsen T, Quist H, Matese JC, Brown PO, Botstein D, Eystein Lonning P, Borresen-Dale AL (2001) Gene expression patterns of breast carcinomas distinguish tumor subclasses with clinical implications. Proc Natl Acad Sci U S A 98:10869-10874
2. Jemal A, Siegel R, Ward E, Hao Y, Xu J, Thun MJ (2009) Cancer statistics 2009. CA Cancer J Clin 59:225-249
3. Vilaprinyo E, Rue M, Marcos-Gragera R, Martinez-Alonso M (2009) Estimation of age-and stage-specific Catalan breast cancer survival functions using US and Catalansurvival data. BMC Cancer 30; 9:98
4. Turnbull C, Rahman N (2008) Genetic predisposition to breast cancer: past, present, and future. Annu Rev Genomics Hum Genet 9:321-345
5. Miki Y, Swensen J, Shattuck-Eidens D, Futreal PA, Harshman K, Tavtigian S, Liu Q, Cochran C, Bennett LM, Ding W, Bell R, Rosenthal J, Hussey C, Tran T, McClure M, Frye C, Hattier T, Phelps R, Haugen-Strano A, Katcher H, Yakumo K, Gholami Z, Shaffer D, Stone S, Bayer S, Wray C, Bogden R, Dayananth P, Ward J, Tonin P, Narod S, Bristow PK, Norris FH, Helvering L, Morrison P, Rosteck P, Lai M, Barrett JC, Lewis C, Neuhausen S, Cannon-Albright L, Goldgar D, Wiseman R, Kamb A, Skolnick MH (1994) A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1. Science 266(5182):66-71
6. Wooster R, Bignell G, Lancaster J, Swift S, Seal S, Mangion J, Collins N, Gregory S, Gumbs C, Micklem G (1995) Identification of the breast cancer susceptibility gene BRCA2. Nature 378:7789-7792
7. Seal S, Thompson D, Renwick A, Elliott A, Kelly P, Barfoot R, Chagtai T, Jayatilake H, Ahmed M, Spanova K, North B, McGuffog L, Evans DG, Eccles D (2006) Breast cancer susceptibility collaboration (UK), Easton DF, Stratton MR, Rahman N: truncating mutations in the Fanconi anemia J gene BRIP1 are low-penetrance breast cancer susceptibility alleles. Nat Genet 38:1239-1241
8. Weischer M, Bojesen SE, Tybjaerg-Hansen A, Axelsson CK, Nordestgaard BG (2007) Increased risk of breast cancer associated with CHEK2*1100delC. J Clin Oncol 25(1):57-63
9. Renwick A, Thompson D, Seal S, Kelly P, Chagtai T, Ahmed M, North B, Jayatilake H, Barfoot R, Spanova K, McGuffog L, Evans DG, Eccles D (2006) Breast cancer susceptibility collaboration (UK), Easton DF, Stratton MR, Rahman N. ATM mutations that cause ataxia-telangiectasia are breast cancer susceptibility alleles. Nat Genet 38:873-875
10. Akashi M, Koeffler HP (1998) Li-Fraumeni syndrome and the role of the p53 tumor suppressor gene in cancer susceptibility. Clin Obstet Gynecol 41(1):172-199
11. Coles C, Condie A, Chetty U, Steel CM, Evans HJ, Prosser J (1992) p53 mutations in breast cancer. Cancer Res 52:5291-5298
12. Millikan RC, Hummer AJ, Wolff MS, Hishida A, Begg CB (2005) HER2 codon 655 polymorphism and breast cancer: results from kin-cohort and case-control analyses. Breast Cancer Res Treat 89(3):309-312
13. Cox DG, Hankinson SE, Hunter DJ (2005) The erbB2/HER2/neu receptor polymorphism Ile655Val and breast cancer risk. Pharmacogenet Genomics 15:447-450
14. Lee SC, Hou MF, Hsieh PC, Wu SH, Hou LA, Ma H, Tsai SM, Tsai LY (2008) A case-control study of the HER2 Ile655Val polymorphism and risk of breast cancer in Taiwan. Clin Biochem 41(3):121-125
15. Papadopoulou E, Simopoulos K, Tripsianis G, Tentes I, Anag- nostopoulos K, Sivridis E, Galazios G, Kortsaris A (2007) Allelic imbalance of HER-2 codon 655 polymorphism among different religious/ethnic populations of Northern Greece and its association with the development and the malignant phenotype of breast cancer. Neoplasma 54:365-373
16. Pinto D, Vasconcelos A, Costa S, Pereira D, Rodrigues H, Lopes C, Medeiros R (2004) HER2 polymorphism and breast cancer risk in Portugal. Eur J Cancer Prev 13:177-181
17. Xie D, Shu XO, Deng Z, Wen WQ, Creek KE, Dai Q, Gao YT, Jin F, Zheng W (2000) Population-based, case-control study of HER2 genetic polymorphism and breast cancer risk. J Natl Cancer Inst 92:412-417
18. Zúbor P, Vojvodová A, Danko J, Kajo K, Szunyogh N, Lasabová Z, Biringer K, Visnovsky J, Dókus K, Galajda P, Plank L (2006) HER-2 [Ile655Val] polymorphism in association with breast cancer risk: a population-based case-control study in Slovakia. Neoplasma 53(1):49-55
19. Akisik E, Dalay N (2004) Estrogen receptor codon 594 and HER2 codon 655 polymorphisms and breast cancer risk. Exp Mol Pathol 76:260-263
20. Kara N, Karakus N, Ulusoy AN, Ozaslan C, Gungor B, Bagci H (2010) P53 codon 72 and HER2 codon 655 polymorphisms in Turkish breast cancer patients. DNA Cell Biol 29(7):387-392
21. Mutluhan H, Akbas E, Erdogan NE, Soylemez F, Senli MS, Polat A, Helvaci I, Seyrek E (2008) The influence of HER2 genotypes as molecular markers on breast cancer outcome. DNA Cell Biol 27(10):575-579
22. Sezgin E, Sahin FI, Yagmurdur MC, Demirhan B (2011) HER-2/neu gene codon 655 (Ile/Val) polymorphism in breast carcinoma patients. Genet Test Mol Biomarkers. 15(3):143-146
23. An HJ, Kim NK, Oh D, Kim SH, Park MJ, Jung MY, Kang H, Kim SG, Lee KP, Lee KS (2005) Her2 genotype and breast cancer progression in Korean women. Pathol Int 55(2):48-52
24. Benusiglio PR, Pharoah PD, Smith PL, Lesueur F, Conroy D, Luben RN, Dew G, Jordan C, Dunning A, Easton DF, Ponder BA (2006) HapMap-based study of the 17q21 ERBB2 amplicon in susceptibility to breast cancer. Br J Cancer. 18 95(12):1689-1695
25. Kalemi TG, Lambropoulos AF, Gueorguiev M, Chrisafi S, Papazisis KT, Kotsis A (2005) The association of p53 mutations and p53 codon 72, Her 2 codon 655 and MTHFR C677T polymorphisms with breast cancer in Northern Greece. Cancer Lett 10 222(1):57-65
26. Kallel I, Kharrat N, Al-fadhly S, Rebai M, Khabir A, Boudawara TS, Rebai A (2010) HER2 polymorphisms and breast cancer in Tunisian women. Genet Test Mol Biomarkers 14:29-35
27. Naidu R, Yip CH, Taib NA (2008) Polymorphisms of HER2 Ile655Val and cyclin D1 (CCND1) G870A are not associated with breast cancer risk but polymorphic allele of HER2 is associated with nodal metastases. Neoplasma 55:87-95
28. Baxter SW, Campbell IG (2001) Re: population based, case-control study of HER2 genetic polymorphism and breast cancer risk. J Natl Cancer Inst 93:557-558
29. Tommasi S, Fedele V, Lacalamita R, Bruno M, Schittulli F, Ginzinger D, Scott G, Eppenberger-Castori S, Calistri D, Casadei S, Seymour I, Longo S, Giannelli G, Pilato B, Simone G, Benz CC, Paradiso A (2007) 655Val and 1170Pro ERBB2 SNPs in familial breast cancer risk and BRCA1 alterations. Cell Oncol 29:241-248
30. Ma Y, Yang J, Zhang P, Liu Z, Yang Z, Qin H (2011) Lack of association between HER2 codon 655 polymorphism and breast cancer susceptibility: meta-analysis of 22 studies involving 19,341 subjects. Breast Cancer Res Treat 125(1):237-241
31. Dahabreh IJ, Murray S (2011) Lack of replication for the association between HER2 I655V polymorphism and breast cancer risk: a systematic review and meta-analysis. Cancer Epidemiol 35(6):503-509
32. Tao W, Wang C, Han R, Jiang H (2009) HER2 codon 655 polymorphism and breast cancer risk: a meta-analysis. Breast Cancer Res Treat 114:371-376
33. Lu S, Wang Z, Liu H, Hao X (2010) HER2 Ile655Val polymorphism contributes to breast cancer risk: evidence from 27 case-control studies. Breast Cancer Res Treat 124:771-778
34. Simpson L, Parsons R (2001) PTEN: life as a tumor suppressor. Exp Cell Res 264:29-41
35. Mills GB, Lu Y, Fang X, Wang H, Eder A, Mao M, Swaby R, Cheng KW, Stokoe D, Siminovitch K, Jaffe R, Gray J (2001) The role of genetic abnormalities of PTEN and the phosphatidylinositol 3-kinase pathway in breast and ovarian tumorigenesis, prognosis, and therapy. Semin Oncol 28:125-141
36. Nelen MR, van Staveren WC, Peeters EA, Hassel MB, Gorlin RJ, Hamm H, Lindboe CF, Fryns JP, Sijmons RH, Woods DG, Mariman EC, Padberg GW, Kremer H (1997) Germline mutations in the PTEN/MMAC1 gene in patients with Cowden disease. Hum Mol Genet 6(8):1383-1387
37. Carroll BT, Couch FJ, Rebbeck TR, Weber BL (1999) Polymorphisms in PTEN in breast cancer families. J Med Genet 36(2):94-96
38. George DJ, Shepard TF, Ma J, Giovannucci E, Kantoff PW, Stampfer MJ (2001) PTEN polymorphism (IVS4) is not associated with risk of prostate cancer. Cancer Epidemiol Biomarkers Prev 10(4):411-412
39. Ge H, Cao YY, Chen LQ, Wang YM, Chen ZF, Wen DG, Zhang XF, Guo W, Wang N, Li Y, Zhang JH (2008) PTEN polymorphisms and the risk of esophageal carcinoma and gastric cardiac carcinoma in a high incidence region of China. Dis Esophagus 21:409-415
40. Miller SA, Dykes DD, Polesky HF (1988) Simple salting-out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 16:1215
41. Yang J, Ren Y, Wang L, Li B, Chen Y, Zhao W, Xu W, Li T, Dai F (2010) PTEN mutation spectrum in breast cancers and breast hyperplasia. J Cancer Res Clin Oncol 136:1303-1311